ORPHA:699844
Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome
Synonyms: DYNC1I2-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome | DYNC1I2-related neurodevelopmental disorder |
| fr | Syndrome de microcéphalie-hypoplasie du corps calleux-gyration simplifiée-déficience intellectuelle | Trouble du neurodéveloppement associé à DYNC1I2 |
| de | Mikrozephalie-Corpus callosum-Hypoplasie-vereinfachtes Gyralmuster-Intelligenzminderung-Syndrom | Neurologische Entwicklungsstörung, DYNC1I2-assoziierte |
| es | Síndrome de microcefalia-hipoplasia del cuerpo calloso-patrón giral simplificado-discapacidad intelectual | Trastorno del neurodesarrollo asociado a DYNC1I2 |
| it | Sindrome microcefalia-ipoplasia del corpo calloso-semplificazione delle circonvoluzioni-disabilità intellettiva | Malattia del neurosviluppo correlata a DYNC1I2 |
| nl | Microcefalie - hypoplasie van corpus callosum - verminderd aantal gyri - intellectuele achterstand-syndroom | DYNC1I2-gerelateerde neurologische ontwikkelingsstroonis |
| pt | Microcephaly-hypoplasia of the corpus callosum-simplified gyral pattern-intellectual disability syndrome | |
| pl | Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome | = en |
| cs | Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/699844
- This record as JSON: /data/d/699844.json